Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.D190delFs

VHL

2,228 papers

RefSeq Summary

This gene encodes a component of a ubiquitination complex. The encoded protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that...

Pfam Domains

VHLaa 63–116UCSCVHL beta domain
VHLaa 63–144UCSCVHL beta domain
VHL_Caa 156–204UCSCVHL box domain

Gene Aliases

HGNC Name

von Hippel-Lindau tumor suppressor

HGNC Alias Symbol

VHL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000551.4
p.D190delFs
c.570delC
Surrounding Variants
1 paper
NM_000551.4
p.D190A
c.569A>C
1 paper
NM_000551.4
p.D190G
c.569A>G
1 paper
NM_000551.4
p.D190V
c.569A>T
1 paper
NM_000551.4
p.D190E
c.570C>A
4 papers
NM_000551.4
p.D190E
c.570C>G
1 paper
NM_000551.4
p.D190N
c.568G>A
2 papers
NM_000551.4
p.D190H
c.568G>C
3 papers
NM_000551.4
p.D190fs
c.568_569fs
1 paper
NM_000551.4
p.D190_H191insTC
c.568_572ins6
3 papers
NM_198156.3
p.D149Y
c.445G>T
NM_000551.4
p.D190Y
c.568G>T
3 papers
NM_000551.4
p.D190fs
c.568_569fs
1 paper
NM_000551.4
p.H191del1
c.571_572delCAC
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